Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paro...
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doaj-3b42c56cb9dc4469bf8143ebd0d975382020-11-24T22:24:47ZengGalenos Publishing HouseBalkan Medical Journal2146-31232146-31312018-08-0135433633910.4274/balkanmedj.2017.0986Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract AtrophyGözde Yeşil0Ayşe Aralaşmak1Enes Akyüz2Dilara İçağasıoğlu3Türkan Uygur Şahin4Yavuz Bayram5Department of Medical Genetics, Bezmialem Vakıf University School of Medicine, İstanbul, TurkeyDepartment of Radiology, Bezmialem Vakıf University School of Medicine, İstanbul, TurkeyDepartment of Medical Genetics, Bezmialem Vakıf University School of Medicine, İstanbul, TurkeyDepartment of Child Disease and Health, Bezmialem Vakıf University School of Medicine, İstanbul, TurkeyDepartment of Child Neurology, Bezmialem Vakıf University School of Medicine, İstanbul, TurkeyMol. & Human Gene/Lupski Lab, Baylor College of Medicine, Texas, USABackground: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case Report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.http://balkanmedicaljournal.org/text.php?lang=en&id=1979Cerebellar atrophydyskinesiaepilepsyKCNMA1spinal tract atrophy |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Gözde Yeşil Ayşe Aralaşmak Enes Akyüz Dilara İçağasıoğlu Türkan Uygur Şahin Yavuz Bayram |
spellingShingle |
Gözde Yeşil Ayşe Aralaşmak Enes Akyüz Dilara İçağasıoğlu Türkan Uygur Şahin Yavuz Bayram Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy Balkan Medical Journal Cerebellar atrophy dyskinesia epilepsy KCNMA1 spinal tract atrophy |
author_facet |
Gözde Yeşil Ayşe Aralaşmak Enes Akyüz Dilara İçağasıoğlu Türkan Uygur Şahin Yavuz Bayram |
author_sort |
Gözde Yeşil |
title |
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy |
title_short |
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy |
title_full |
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy |
title_fullStr |
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy |
title_full_unstemmed |
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy |
title_sort |
expanding the phenotype of homozygous kcnma1 mutations; dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy |
publisher |
Galenos Publishing House |
series |
Balkan Medical Journal |
issn |
2146-3123 2146-3131 |
publishDate |
2018-08-01 |
description |
Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures.
Case Report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy.
Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic. |
topic |
Cerebellar atrophy dyskinesia epilepsy KCNMA1 spinal tract atrophy |
url |
http://balkanmedicaljournal.org/text.php?lang=en&id=1979 |
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